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Journal Abstract Search

154 related items for PubMed ID: 8005942

  • 21. Retinitis pigmentosa, autosomal dominant type: two kindreds.
    Schleutermann D, Pierce E, Cantolino Sj, Naidoff M.
    Birth Defects Orig Artic Ser; 1971 Mar; 7(3):178-9. PubMed ID: 5173137
    [No Abstract] [Full Text] [Related]

  • 22. [Usher syndrome in childhood].
    Sidi J, Liberman A.
    Harefuah; 1972 Sep 15; 83(5):198-9. PubMed ID: 4540025
    [No Abstract] [Full Text] [Related]

  • 23. [Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].
    Orth U, Samanns C, Gusseck H, Niemeyer G, Ludwig M, Meitinger T, Schinzel A, Schwinger E, Gal A.
    Fortschr Ophthalmol; 1991 Sep 15; 88(5):455-9. PubMed ID: 1757031
    [Abstract] [Full Text] [Related]

  • 24. Studies on blood from patients with dominantly-inherited retinitis pigmentosa.
    Voaden MJ, Polkinghorne PJ, Belin J, Smith AD.
    Prog Clin Biol Res; 1989 Sep 15; 314():57-68. PubMed ID: 2608680
    [No Abstract] [Full Text] [Related]

  • 25. Usher's syndrome, temporal bone pathology.
    Cremers CW, Delleman WJ.
    Int J Pediatr Otorhinolaryngol; 1988 Oct 15; 16(1):23-30. PubMed ID: 3203983
    [Abstract] [Full Text] [Related]

  • 26. Autosomal dominant Lewy-body Parkinson's disease.
    Golbe LI, Miller DC, Duvoisin RC.
    Adv Neurol; 1990 Oct 15; 53():287-92. PubMed ID: 2173372
    [No Abstract] [Full Text] [Related]

  • 27. [Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].
    Reig C, Antich J, Gean E, Dante Heredia C, Valverde D, Baiget M, Carballo M.
    Med Clin (Barc); 1996 Feb 17; 106(6):219-21. PubMed ID: 8667664
    [Abstract] [Full Text] [Related]

  • 28. Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.
    Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.
    Ophthalmic Genet; 2000 Dec 17; 21(4):251-6. PubMed ID: 11135497
    [Abstract] [Full Text] [Related]

  • 29. Variable onset of adult inherited focal dystonia: a problem for genetic studies.
    Micheli S, Fernández-Pardal M, Quesada P, Brannan T, Obeso JA.
    Mov Disord; 1994 Jan 17; 9(1):64-8. PubMed ID: 8139606
    [No Abstract] [Full Text] [Related]

  • 30. Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
    Vaithinathan R, Berson EL, Dryja TP.
    Genomics; 1994 May 15; 21(2):461-3. PubMed ID: 8088850
    [No Abstract] [Full Text] [Related]

  • 31. Retinitis pigmentosa in the Navajo.
    Heckenlively J, Friederich R, Farson C, Pabalis G.
    Metab Pediatr Ophthalmol; 1981 May 15; 5(3-4):201-6. PubMed ID: 7311662
    [No Abstract] [Full Text] [Related]

  • 32. Familial neonatal and infantile seizures: an autosomal-dominant disorder.
    Zonana J, Silvey K, Strimling B.
    Am J Med Genet; 1984 Jul 15; 18(3):455-9. PubMed ID: 6476007
    [Abstract] [Full Text] [Related]

  • 33. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.
    Benomar A, Le Guern E, Dürr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A.
    Ann Neurol; 1994 Apr 15; 35(4):439-44. PubMed ID: 8154871
    [Abstract] [Full Text] [Related]

  • 34. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 15; 47(4):1630-5. PubMed ID: 16565402
    [Abstract] [Full Text] [Related]

  • 35. Autosomal inheritance of "senile" retinitis pigmentosa. A report of a family with consanguinity.
    Bonneau D, Kaplan J, Girard G, Dufier JL.
    Clin Genet; 1992 Oct 15; 42(4):199-200. PubMed ID: 1424244
    [Abstract] [Full Text] [Related]

  • 36. A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting.
    Friedlaender MM, Rubinger D, Silver J, Zlotogora J, Merin S, Popovtzer MM.
    Clin Nephrol; 1986 Apr 15; 25(4):202-6. PubMed ID: 3698352
    [Abstract] [Full Text] [Related]

  • 37. Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
    Dundar M, Erkilic K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Matyas G, Child AH.
    Genet Couns; 2008 Apr 15; 19(3):319-30. PubMed ID: 18990988
    [Abstract] [Full Text] [Related]

  • 38. A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.
    Bass SJ, Noble KG.
    Retina; 2008 Apr 15; 28(7):1013-4. PubMed ID: 18698306
    [Abstract] [Full Text] [Related]

  • 39. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.
    Hum Mutat; 2001 Jun 15; 17(6):520. PubMed ID: 11385710
    [Abstract] [Full Text] [Related]

  • 40. Clinical variation in Usher's syndrome.
    McLeod AC, McConnell FE, Sweeney A, Cooper MC, Nance WE.
    Arch Otolaryngol; 1971 Oct 15; 94(4):321-34. PubMed ID: 5315432
    [No Abstract] [Full Text] [Related]

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